ExperimentName: Ojala 2016 hiPSC-derived CMs
PatientCell: CL_0002620 (skin fibroblasts)
GeneFunction: GO:0008016 (regulation of heart contraction)
GeneAlteration: hiPSC-derived cardiomyocytes (CMs) generated from skin fibroblasts collected from patients carrying a TPM1-Asp175Asn mutation
FunctionalEvidence: Figure 2 shows enlarged cardiomyocytes (CMs) (a-b), an increase in multinucleated CMs (c), and calcium handling abnormalities (d) for the HCM-TPM1 variant CMs compared to WT CMs.
FAVariants: NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn), CA018106